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Simpson & Carson, Glob libr women’s med, 2013
Mosaicism in POCs
❑ Rare (~1%)
❑ Two non-disjunction events (meiotic & mitotic) ❑ Less severity of the phenotype
❑ Probably overestimated, be careful of:
❑ Cytogenetic definition of mosaicism and technique used ❑ Maternal cell contamination
❑ Abnormal phenotype
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PRECONGRESS COURSE 10 I VIENNA, AUSTRIA – 23 JUNE 2019 47